Transmissible spongiform encephalopathy causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Rinky Agnes Botleroo, M.B.B.S.

## Overview

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Prion diseases cause a progressive decline in brain function due to misfolding of proteins in the brain, called prion proteins (PrP) These are unique diseases,their aetiology may be genetic, sporadic or infectious via ingestion of infected foodstuffs and via iatrogenic means (e.g. blood transfusion/donated organs)

## Causes

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* 10 -15 percent of all the cases of prion disease are caused by mutations in the PRNP gene.
* Familial prion diseases results from mutations in the PRNP gene.This specific form of prion diseases are known as familial prion diseases as they can run in families.
* These include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).
* The PRNP gene gives instructions to make a protein,called prion protein (PrP).
* The exact function of this prion protein is unknown,it is thought that it has roles in several important processes.
* These processes include the transport of copper into cells, protecting brain cells (neurons) from injury (neuroprotection), and maintaining communication between neurons.
* In familial forms of prion disease, PRNP gene mutations result in the production of an abnormally shaped protein, known as PrPSc, from one copy of the gene.
* PrPSc can bind to the normal protein (PrPC) and cause its transformation into PrPSc,this process is not fully understood.
* This abnormal protein accumulates in the brain, forming clumps which damage or cause destruction of neurons. The loss of these cells creates microscopic sponge-like holes (vacuoles) in the brain, which causes signs and symptoms of prion disease.[1]

* Rest of the 85-90 percent of cases of prion disease are either sporadic or acquired.[1]
* People with sporadic prion disease have no family history of the disease and no identified mutation in the PRNP gene.
* Sporadic disease occurs when PrPC spontaneously, and for unknown reasons, is transformed into PrPSc.
* Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease-sensitive prionopathy (VPSPr).
* Acquired prion disease results from exposure to PrPSc from an outside source.
* For example, variant Creutzfeldt-Jakob disease (vCJD) is a type of acquired prion disease in humans that results from eating beef products containing PrPSc from cattle with prion disease.
* This form of the disease in cows is known as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow disease."
* Another example of an acquired human prion disease is Kuru, which was identified in population in Papua New Guinea. The disorder was transmitted when individuals ate affected human tissue during cannibalistic funeral rituals.

* Prion diseases can rarely be caused by accidental exposure to PrPSc-contaminated tissues during a medical procedure. These 1-2 percent of prion diseases are classified as iatrogenic.[1]

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## References

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1. ↑ 1.0 1.1 1.2 "Prion disease - Genetics Home Reference - NIH".

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